Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12211636G= , CM000686.2:g.12211636G= | GRCh38 |
| NC_000024.9:g.14332342G= , CM000686.1:g.14332342G= | GRCh37 |
| NC_000024.8:g.12842342G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651802.1:n.489-1373C= | ||
| ENST00000651835.1:n.630-5053C= |